Linked Data
ClinVar Variation Id:
179860
dbSNP Id:
rs727505177
ExAC:
1:236925877 C / T
gnomAD v2:
1-236925877-C-T
gnomAD v3:
1-236762577-C-T
gnomAD v4:
1-236762577-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236762577C>T , CM000663.2:g.236762577C>T | GRCh38 |
| NC_000001.10:g.236925877C>T , CM000663.1:g.236925877C>T | GRCh37 |
| NC_000001.9:g.234992500C>T | NCBI36 |
| NG_009081.1:g.81108C>T | |
| NG_009081.2:g.103437C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.2643C>T | ENSP00000443495.1:p.Tyr881= | |
| ENST00000461367.2:n.939C>T | ||
| ENST00000492634.7:n.2573C>T | ||
| ENST00000682015.1:c.2550C>T | ENSP00000506961.1:p.Tyr850= | |
| ENST00000682490.1:n.561C>T | ||
| ENST00000682692.1:n.3738C>T | ||
| ENST00000682966.1:n.8284C>T | ||
| ENST00000683111.1:c.*1929C>T | ENSP00000507913.1:n.*1929C>T | |
| ENST00000683322.1:n.3995C>T | ||
| ENST00000683805.1:n.1434C>T | ||
| ENST00000684050.1:n.5281C>T | ||
| ENST00000684122.1:n.2077C>T | ||
| ENST00000684286.1:n.4198C>T | ||
| ENST00000684502.1:n.3940C>T | ||
| ENST00000684763.1:n.1258C>T | ||
| ENST00000366578.6:c.2643C>T MANE Select | ENSP00000355537.4:p.Tyr881= | |
| ENST00000492634.6:n.2573C>T | ||
| ENST00000542672.6:c.2643C>T | ENSP00000443495.1:p.Tyr881= | |
| ENST00000651091.1:c.2333C>T | ENSP00000498677.1:n.2333C>T | |
| ENST00000651275.1:c.2535C>T | ENSP00000498926.1:p.Tyr845= | |
| ENST00000651781.1:c.1723C>T | ||
| ENST00000651786.1:c.*2015C>T | ENSP00000498364.1:n.*2015C>T | |
| ENST00000652096.1:c.*2048C>T | ENSP00000498896.1:n.*2048C>T | |
| ENST00000366578.5:c.2643C>T | ENSP00000355537.4:p.Tyr881= | |
| ENST00000542672.5:c.2643C>T | ENSP00000443495.1:p.Tyr881= | |
| ENST00000546208.5:c.2019C>T | ENSP00000438384.2:p.Tyr673= | |
| NM_001103.3:c.2643C>T | NP_001094.1:p.Tyr881= | |
| NM_001278343.1:c.2643C>T | NP_001265272.1:p.Tyr881= | |
| NM_001278344.1:c.2019C>T | NP_001265273.1:p.Tyr673= | |
| NM_001278343.2:c.2643C>T | NP_001265272.1:p.Tyr881= | |
| NM_001103.4:c.2643C>T MANE Select | NP_001094.1:p.Tyr881= | |
| NM_001278344.2:c.2019C>T | NP_001265273.1:p.Tyr673= |